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  3. NR4A2
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Dystonia - complex

Gene: NR4A2

Green List (high evidence)
NR4A2 (nuclear receptor subfamily 4 group A member 2)
EnsemblGeneIds (GRCh38): ENSG00000153234
EnsemblGeneIds (GRCh37): ENSG00000153234
OMIM: 601828, Gene2Phenotype
NR4A2 is in 7 panels

1 review

Sebastian Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Three patients described to expand the known phenotype of mild ID with early adulthood onset Dystonia and Early-onset Parkinson. Three patients described in two publications, two with frameshift and one with missense, all de-novo.

https://doi.org/10.1212/NXG.0000000000000543
https://doi.org/10.1002/mds.27982
Sources: Literature
Created: 1 Feb 2021, 4:27 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Intellectual Disability; Dystonia and Early-onset Parkinson

Publications

Created: 1 Feb 2021, 4:27 a.m.

Panel version: 0.167

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911
OMIM
601828
Clinvar variants
Variants in NR4A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Jun 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NR4A2 were changed from Intellectual Disability; Dystonia and Early-onset Parkinson to Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911

1 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Sebastian Lunke (Victorian Clinical Genetics Services)

Gene: nr4a2 has been classified as Green List (High Evidence).

1 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Sebastian Lunke (Victorian Clinical Genetics Services)

Gene: nr4a2 has been classified as Green List (High Evidence).

1 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sebastian Lunke (Victorian Clinical Genetics Services)

gene: NR4A2 was added gene: NR4A2 was added to Dystonia - complex. Sources: Literature Mode of inheritance for gene: NR4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NR4A2 were set to 31922365 Phenotypes for gene: NR4A2 were set to Intellectual Disability; Dystonia and Early-onset Parkinson Review for gene: NR4A2 was set to GREEN